中国武汉地区新生儿α-地中海贫血基因型分析

Prevalence and Genotype Analysis of Newborn α-Thalassemia in Wuhan Area of China

目的:调查中国武汉地区新生儿α-地中海贫血基因的基因分析,分析其分子流行病学特点。方法:采用PCR、流式细胞术荧光原位杂交法检测中国武汉地区1 376例地中海贫血,以筛查阳性新生儿α-地中海贫血基因。结果:检测出中国武汉地区新生儿α-地中海贫血436例,α-复合β-地中海贫血10例。α-地中海贫血以轻型和静止型为常见,其中--^(SEA)/αα237例(54.36%)、-α^(3.7)/αα135例(30.96%)、-α^(4.2)/αα30例(6.88%)在α-地中海贫血中高达92.20%,中间型-α^(3.7)/--^(SEA)仅1例;基因频率以--^(SEA)/缺失、-α^(3.7)/缺失和-α^(4.2)/缺失为主,而α^(CS)突变、α^(QS)突变、α^(WS)突变则较少,构成比分别为:54.12%、32.29%、7.13%、3.79%、2.45%和0.22%。结论:中国武汉地区新生儿地中海贫血以静止型和轻型最为常见;基因频率中缺失型--^(SEA)/αα、-α^(3.7)/αα和-α^(4.2)/αα较高。

Objective： To investigate the genotypes of newborn α-thalassemia and to analyze its characteristics of molecular epidemiology in Wuhan area. Methods： The newborn α-thalassemia gene in 1 376 cases with positive confirmed in the primary screening in Wuhan area was detected by PCR,flowcytometry and FISH. Results： The α-thalassemia in 436 newborns and α-β-composite thalassemia in 10 newborns were confirmed by detection in Wuhan area. The majority of thalassemia cases [up to 92. 20%（ 402/436） ]were found to be minor and static type thalassemia including 237 cases of-（SEA）αα（ 54. 36%）,135 cases of-α^3. 7/αα（ 30. 96%） and 30 case of-α^4. 2/αα（ 6. 88%）,however,the intermediate type-α^3. 7/-^SEA was found in 1 newborn. The-SEA/detetion,-α^3. 7/detetion and-α^4. 2/detetion were major in the detetion,the frequency was 54. 12%,32. 29% and 7. 13%,respectively; while the α^CS mutation,α^QS mutation and α^WS mutation were less in the mutation,their frequency was 3. 7%,2. 45% and 0. 22%respectively. Conclusion： The minor and static type newborn thalassemia is most common,the incidence of detetion type-^SEA/αα,-α^3. 7/αα and α^4. 2/αα is more high in Wuhan area of china.